ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1289del (p.Ser430fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003468346 SCV004199855 likely pathogenic Holocarboxylase synthetase deficiency 2024-03-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003468346 SCV005664104 likely pathogenic Holocarboxylase synthetase deficiency 2024-05-18 criteria provided, single submitter clinical testing

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